Literature DB >> 24577266

Loeys-Dietz syndrome: a primer for diagnosis and management.

Gretchen MacCarrick1, James H Black2, Sarah Bowdin3, Ismail El-Hamamsy4, Pamela A Frischmeyer-Guerrerio5, Anthony L Guerrerio5, Paul D Sponseller6, Bart Loeys7, Harry C Dietz8.   

Abstract

Loeys-Dietz syndrome is a connective tissue disorder predisposing individuals to aortic and arterial aneurysms. Presenting with a wide spectrum of multisystem involvement, medical management for some individuals is complex. This review of literature and expert opinion aims to provide medical guidelines for care of individuals with Loeys-Dietz syndrome.

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Year:  2014        PMID： 24577266      PMCID： PMC4131122          DOI： 10.1038/gim.2014.11

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


  71 in total

1.  Total arch replacement procedure in a child with Loeys-Dietz syndrome.

Authors:  William I Douglas
Journal:  Eur J Cardiothorac Surg       Date:  2012-02-09       Impact factor: 4.191

Review 2.  Vitamin D deficiency.

Authors:  Michael F Holick
Journal:  N Engl J Med       Date:  2007-07-19       Impact factor: 91.245

3.  TGFβ receptor mutations impose a strong predisposition for human allergic disease.

Authors:  Pamela A Frischmeyer-Guerrerio; Anthony L Guerrerio; Gretchen Oswald; Kristin Chichester; Loretha Myers; Marc K Halushka; Maria Oliva-Hemker; Robert A Wood; Harry C Dietz
Journal:  Sci Transl Med       Date:  2013-07-24       Impact factor: 17.956

4.  [Loeys-Dietz syndrome with acute myeloid leukemia].

Authors:  Yosuke Togashi; Hiroto Sakoda; Hiroyuki Sugahara; Kosuke Asagoe; Yuji Matsuzawa
Journal:  Rinsho Ketsueki       Date:  2008-08

Review 5.  TGF-beta signaling in cancer--a double-edged sword.

Authors:  R J Akhurst; R Derynck
Journal:  Trends Cell Biol       Date:  2001-11       Impact factor: 20.808

6.  Increased fracture risk and low bone mineral density in patients with loeys-dietz syndrome.

Authors:  Eric W Tan; Roosevelt U Offoha; Gretchen L Oswald; Richard L Skolasky; Ashvin K Dewan; Gehua Zhen; Jay R Shapiro; Harry C Dietz; Xu Cao; Paul D Sponseller
Journal:  Am J Med Genet A       Date:  2013-07-04       Impact factor: 2.802

7.  Aneurysm syndromes caused by mutations in the TGF-beta receptor.

Authors:  Bart L Loeys; Ulrike Schwarze; Tammy Holm; Bert L Callewaert; George H Thomas; Hariyadarshi Pannu; Julie F De Backer; Gretchen L Oswald; Sofie Symoens; Sylvie Manouvrier; Amy E Roberts; Francesca Faravelli; M Alba Greco; Reed E Pyeritz; Dianna M Milewicz; Paul J Coucke; Duke E Cameron; Alan C Braverman; Peter H Byers; Anne M De Paepe; Harry C Dietz
Journal:  N Engl J Med       Date:  2006-08-24       Impact factor: 91.245

8.  Severe aortic and arterial aneurysms associated with a TGFBR2 mutation.

Authors:  Scott A LeMaire; Hariyadarshi Pannu; Van Tran-Fadulu; Stacey A Carter; Joseph S Coselli; Dianna M Milewicz
Journal:  Nat Clin Pract Cardiovasc Med       Date:  2007-03

9.  Aortic root replacement with re-implantation technique in an infant with Loeys-Dietz syndrome and a bicuspid aortic valve.

Authors:  Julie Cleuziou; Walter B Eichinger; Christian Schreiber; Rüdiger Lange
Journal:  Pediatr Cardiol       Date:  2009-09-26       Impact factor: 1.655

10.  Neuroradiologic manifestations of Loeys-Dietz syndrome type 1.

Authors:  V J Rodrigues; S Elsayed; B L Loeys; H C Dietz; D M Yousem
Journal:  AJNR Am J Neuroradiol       Date:  2009-06-25       Impact factor: 3.825
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  107 in total

Review 1.  CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.

Authors:  Benjamin J Landis; David S Cooper; Robert B Hinton
Journal:  Cardiol Young       Date:  2015-09-08       Impact factor: 1.093

2.  Anterior Surgical Treatment of Scoliosis in a Patient With Loeys-Dietz Syndrome.

Authors:  Mazda Farshad; Elin Winkler; Michael Betz
Journal:  J Am Acad Orthop Surg Glob Res Rev       Date:  2017-10-17

3.  Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder.

Authors:  Alessio Pieroni; Marco Castori; Paolo Caso; Eugenio Di Bernardini; Manuela De Michele; Marco Ritelli; Marina Colombi; Danilo Toni
Journal:  Intern Emerg Med       Date:  2015-01-15       Impact factor: 3.397

Review 4.  TGF-β Family Signaling in Connective Tissue and Skeletal Diseases.

Authors:  Elena Gallo MacFarlane; Julia Haupt; Harry C Dietz; Eileen M Shore
Journal:  Cold Spring Harb Perspect Biol       Date:  2017-11-01       Impact factor: 10.005

5.  Genetic diagnostics of inherited aortic diseases : Medical strategy analysis.

Authors:  Y von Kodolitsch; K Kutsche
Journal:  Herz       Date:  2017-08       Impact factor: 1.443

Review 6.  The Genetics of Pneumothorax.

Authors:  Philip M Boone; Rachel M Scott; Stefan J Marciniak; Elizabeth P Henske; Benjamin A Raby
Journal:  Am J Respir Crit Care Med       Date:  2019-06-01       Impact factor: 21.405

7.  Lineage-specific events underlie aortic root aneurysm pathogenesis in Loeys-Dietz syndrome.

Authors:  Elena Gallo MacFarlane; Sarah J Parker; Joseph Y Shin; Benjamin E Kang; Shira G Ziegler; Tyler J Creamer; Rustam Bagirzadeh; Djahida Bedja; Yichun Chen; Juan F Calderon; Katherine Weissler; Pamela A Frischmeyer-Guerrerio; Mark E Lindsay; Jennifer P Habashi; Harry C Dietz
Journal:  J Clin Invest       Date:  2019-01-07       Impact factor: 14.808

Review 8.  Diagnostic approach and management of genetic aortopathies.

Authors:  Rohan Bhandari; Rajani D Aatre; Yogendra Kanthi
Journal:  Vasc Med       Date:  2020-02       Impact factor: 3.239

Review 9.  Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.

Authors:  Josephina A N Meester; Aline Verstraeten; Dorien Schepers; Maaike Alaerts; Lut Van Laer; Bart L Loeys
Journal:  Ann Cardiothorac Surg       Date:  2017-11

Review 10.  Genes Associated with Thoracic Aortic Aneurysm and Dissection: An Update and Clinical Implications.

Authors:  Adam J Brownstein; Bulat A Ziganshin; Helena Kuivaniemi; Simon C Body; Allen E Bale; John A Elefteriades
Journal:  Aorta (Stamford)       Date:  2017-02-01
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